ClinVar Genomic variation as it relates to human health
NM_001718.6(BMP6):c.287T>C (p.Leu96Pro)
Germline
Classification
(2)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
BMP6 | - | - |
GRCh38 GRCh37 |
69 | 103 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
risk factor (1) |
|
Nov 28, 2022 | RCV002462812.1 | |
Likely benign (1) |
|
Feb 1, 2024 | RCV003439020.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024